Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut TACC2 10579 broad.mit.edu 37 10 123845778 123845778 + Missense_Mutation SNP G G T TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr10:123845778G>T ENST00000369005.1 + 4 4103 c.3763G>T c.(3763-3765)Gct>Tct p.A1255S TACC2_ENST00000515603.1_Missense_Mutation_p.A1255S|TACC2_ENST00000515273.1_Missense_Mutation_p.A1255S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1255S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A1255S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1255 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) TGGAGTGAAAGCTGTTTCCTC 0.592000 46 129 2.59344e-38 3.01174e-38 1 1 0 GRIP2 80852 broad.mit.edu 37 3 14565875 14565875 + RNA SNP A A G rs17039738 by1000genomes TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr3:14565875A>G ENST00000273083.3 - 0 469 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GCAGTGGAGAAAGTTCCCCGT 0.642000 2 13 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31599695 31599695 + Missense_Mutation SNP G G A TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr6:31599695G>A ENST00000376033.2 + 16 3479 c.3245G>A c.(3244-3246)cGc>cAc p.R1082H PRRC2A_ENST00000376007.4_Missense_Mutation_p.R1082H NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1082 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding p.R1082H(1) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CCCCGAGGCCGCACTGCCAGC 0.642000 3 21 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52942354 52942354 + Silent SNP A A G TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr19:52942354A>G ENST00000332323.6 + 4 1741 c.1680A>G c.(1678-1680)gaA>gaG p.E560E ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.E547E NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 ATACTGGAGAAAAGCCTTACA 0.433000 3 31 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98543388 98543388 + Missense_Mutation SNP G G C TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr7:98543388G>C ENST00000359863.4 + 32 4701 c.4492G>C c.(4492-4494)Ggg>Cgg p.G1498R TRRAP_ENST00000355540.3_Intron|TRRAP_ENST00000446306.3_Intron NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1498 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTCCGAGTGCGGGAGATGTCC 0.383000 47 79 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73499543 73499543 + Silent SNP G G A rs141961301 TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr17:73499543G>A ENST00000321617.3 - 17 2332 c.1746C>T c.(1744-1746)agC>agT p.S582S CASKIN2_ENST00000433559.2_Silent_p.S500S NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 582 SAM 2. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AGTCGTAGCCGCTGCTCACCA 0.632000 6 96 0 0 1 0 0 PPP3R2 5535 broad.mit.edu 37 9 104356700 104356700 + Silent SNP G G C TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr9:104356700G>C ENST00000374806.1 - 1 583 c.513C>G c.(511-513)ctC>ctG p.L171L GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 168 calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CTCATACGATGAGGACCAGCT 0.463000 9 110 0 0 1 0 0 SEMA3B 7869 broad.mit.edu 37 3 50311051 50311051 + RNA SNP A A T TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr3:50311051A>T ENST00000418948.1 + 0 1130 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCCGGCGTCGAGGGCGACACC 0.711000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 69 0 0 1 0 0 PDCL2 132954 broad.mit.edu 37 4 56428581 56428581 + Silent SNP G G T TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr4:56428581G>T ENST00000295645.4 - 5 663 c.561C>A c.(559-561)ctC>ctA p.L187L NM_152401.2 NP_689614.2 Q8N4E4 PDCL2_HUMAN phosducin-like 2 187 endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) CTTCCAGCTTGAGATTTATCC 0.323000 16 24 1.15088e-07 1.21858e-07 1 1 0 TAX1BP1 8887 broad.mit.edu 37 7 27856612 27856612 + Silent SNP A A T TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr7:27856612A>T ENST00000396319.2 + 15 2128 c.2040A>T c.(2038-2040)cgA>cgT p.R680R TAX1BP1_ENST00000409980.1_Silent_p.R704R|TAX1BP1_ENST00000265393.6_Silent_p.R638R|TAX1BP1_ENST00000433216.2_Silent_p.R481R|TAX1BP1_ENST00000543117.1_Silent_p.R638R NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 680 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) AGCCTGCTCGAAACTTTAGTC 0.448000 17 116 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179659202 179659202 + Missense_Mutation SNP G G T TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr2:179659202G>T ENST00000589042.1 - 8 1546 c.1322C>A c.(1321-1323)cCa>cAa p.P441Q TTN_ENST00000591111.1_Missense_Mutation_p.P441Q|TTN_ENST00000342992.6_Missense_Mutation_p.P441Q|TTN_ENST00000342175.6_Missense_Mutation_p.P441Q|TTN_ENST00000359218.5_Missense_Mutation_p.P441Q|TTN_ENST00000460472.2_Missense_Mutation_p.P441Q|TTN_ENST00000360870.5_Missense_Mutation_p.P441Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 441 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGATCACTGGTTCTCTCAC 0.517000 22 224 3.8784e-16 4.3632e-16 1 1 0 WDR88 126248 broad.mit.edu 37 19 33666304 33666304 + Silent SNP C C T TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr19:33666304C>T ENST00000355868.3 + 11 1321 c.1245C>T c.(1243-1245)tgC>tgT p.C415C WDR88_ENST00000361680.2_3'UTR NM_173479.3 NP_775750.3 Q6ZMY6 WDR88_HUMAN WD repeat domain 88 415 p.C415C(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) CATGTCAGTGCGAAAGATGTG 0.493000 65 138 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71492992 71492992 + Silent SNP C C T rs79516161 byFrequency TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr5:71492992C>T ENST00000296755.7 + 5 4108 c.3810C>T c.(3808-3810)acC>acT p.T1270T NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1270 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TAGAAAAGACCCCCCTGGGTG 0.522000 44 88 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 4 29 0 0 1 0 0 TNFSF9 8744 broad.mit.edu 37 19 6534761 6534761 + Missense_Mutation SNP G G A rs112025865 byFrequency TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr19:6534761G>A ENST00000245817.3 + 3 487 c.449G>A c.(448-450)cGg>cAg p.R150Q NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 150 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 CTAGAGCTGCGGCGCGTGGTG 0.652000 3 14 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48807367 48807367 + Silent SNP C C A rs28582401 by1000genomes TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr19:48807367C>A ENST00000315396.7 - 7 1267 c.585G>T c.(583-585)ctG>ctT p.L195L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 195 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CGCGCTCCCGCAGCAAGCCCA 0.682000 8 94 1.26484e-09 1.37983e-09 1 1 0 MAP1A 4130 broad.mit.edu 37 15 43819231 43819231 + Missense_Mutation SNP C C G TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr15:43819231C>G ENST00000382031.1 + 5 6305 c.6274C>G c.(6274-6276)Cct>Gct p.P2092A MAP1A_ENST00000399453.1_Missense_Mutation_p.P1854A|MAP1A_ENST00000300231.5_Missense_Mutation_p.P1854A P78559 MAP1A_HUMAN microtubule-associated protein 1A 1854 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACCCCTCCCCCCTGCACCCCT 0.622000 4 47 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 34 79 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 6 81 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 3 4 --- --- --- --- PCYT1A 5130 broad.mit.edu 37 3 195997320 195997322 + In_Frame_Del DEL TCT TCT - TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr3:195997320_195997322delTCT ENST00000292823.2 - 3 253_255 c.81_83delAGA c.(79-84)gat>ga p.ED27del PCYT1A_ENST00000431016.1_In_Frame_Del_p.ED27del|PCYT1A_ENST00000419333.1_In_Frame_Del_p.ED27del|PCYT1A_ENST00000491544.1_5'UTR NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 27 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) AGGAACCCCATCTTCTTCTGTTG 0.498 7 561 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 7 172 --- --- --- --- TMEM5 10329 broad.mit.edu 37 12 64173875 64173876 + Frame_Shift_Del DEL GG GG - TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr12:64173875_64173876delGG ENST00000261234.6 + 1 293_294 c.135_136delGG c.(133-138)aaggfs p.KG45fs RP11-415I12.3_ENST00000509615.2_RNA NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 45 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) gccTCAGGAAGGGGGCGGCCCC 0.743 3 6 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-DJ-A3VA-01A-11D-A23M-08 TCGA-DJ-A3VA-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f96d7b35-5f53-48ae-a238-77432fc9aee6 54f198a2-b581-4194-bb9d-a1f2bfca0823 g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)gca>gCGGca p.366_366A>AA NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 2 4 --- --- --- ---